ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.205G>T (p.Val69Leu)

gnomAD frequency: 0.00001  dbSNP: rs558060514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967854 SCV001115275 likely benign PRPH2-related disorder 2022-12-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705976 SCV005223782 likely benign not provided criteria provided, single submitter not provided

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